SICKLE CELL DISEASE IN LAKE REGION, KENYA

INTRODUCTION

Sickle cell is an inherited disease which affects the Haemoglobin in an autosomal recessive pattern. Males and females are affected equally and both parents must carry the abnormal genes, even if they have no symptoms for the child to be affected.

When both parents carry a single gene mutation HbAS(sickle cell trait) there is a 25% chance a child may get Sickle cell disease(HbSS), a 25% chance that a child will be unaffected(HbAA) and a 50% chance that they will inherit the genetic mutation(HbAS) as an asymptomatic carrier(this probability occurs in every single pregnancy).

The likelihood of parents getting children with Sickle cell disease is 25% if both parents are carriers of HbAS, 50% if one parent has HbAS and the other one is HbSS and 100% if both parents have HbSS i.e. Sickle cell disease.

Haemoglobin plays the role f transporting oxygen in the blood to the bodily tissues where it is required. Sickle haemoglobin has a curved sickle shape rather than the flat-disc-shaped cells of normal haemoglobin. The sickle shape causes red blood cells to become more rigid and less flexible making them hemolyze(shortened lifespan of 10-20 days instead of 90-120 days) and causing blockages in the blood vessels that disrupt the flow of blood.

BURDEN OF SICKLE CELL DISEASE

There is a paucity of data about the exact global burden of SCD, however, about 300,000 babies are born every year with sickle cell anaemia 90% of whom are found in Nigeria, the Democratic Republic of Congo, and India. These 3 countries have 2% of the population having SCD while the carrier prevalence rate is 10-30%.

It is projected that this number will surpass 400,000 by 2050 due to LMIC, MIC and now recording reduced infant mortality because of early diagnosis and treatment. It is estimated that 40% of people in some African countries have sickle cell trait, while in countries with poor resources, more than 90% of children with SCD do not survive to adulthood; about 1,000 children in Africa are born with SCD every day, and more than half will die before 5years of life.

Sickle cell distribution follows the malaria belt and HbAS is thought to protect people against severe malaria. People with HbAS are 90% less likely to develop severe malaria.

In Kenya, it is estimated that 4,000 children are born with SCD annually. A total of 21 out of 100 children in Kisumu are born with Sickle cell trait.

DIAGNOSIS OF SICKLE CELL DISEASE

 

Since Sickle Cell Disease(SCD) occurs in the malaria endemic regions and both conditions can present with three similar symptoms namely severe anaemia, jaundice and splenomegaly in children the diagnosis of SCD is often missed especially in the peripheral facilities where most of our patients are.

Secondly, the SS occurs in children whose parents are carriers AS and from the mode of inheritance, it may occur after some skipping one or two family lines.

Once they come to Jaramogi Oginga Odinga Teaching and Referral Hospital(JOOTRH) or Kisumu County Hospital(KCH), that is if they ever come since the region is vast and a referral to the ‘city’ means the family must make other arrangements apart from finances. We hope therefore that this conference in addition to creating awareness among people of SCD in general will also provide a means of facilitating the ease of making prompt diagnosis.

In the recent past, neonatal diagnosis of SCD was started but this is limited to the facilities in the ‘city’,KCH and JOOTRH.

There are 2 methods to diagnose SCD, Hb electrophoresis and HPLC. We now have a HPLC machine at JOOTRH courtesy of the Kenya Hemophilia Association. For screening of SCD patients, we have the Sickling test which is quite subjective and unreliable.

MANAGEMENT OF SCD

The management of SCD involves the entire community since they will require support as well as medical therapy. Among the supportive management, there is the nutritional aspect, adequate rehydration and avoiding conditions that would promote sickling of the cells and adequate pain management.

In the definitive treatment, we use Hydroxyurea to increase the levels of haemoglobin F which reduces the sickling of the cells, Penicillin V for antibiotic prophylaxis till 5 years, Folic acid as prevention of deficiency, and Paludrine for prevention of malaria and vaccinations. It is recommended that SCD patients receive all regular vaccines plus additional ones which the majority are not aware of nor can they afford them. The following vaccines are recommended for SCD patients:

1. Pneumococcal vaccine at 2yrs and every 5yrs(to prevent acute chest syndrome)
2. Annual influenza vaccine
3. Haemophilus influenza type B booster at 18 months
4. Meningococcal vaccine 2 doses if below 2yrs and one dose for the rest.

The neonates start experiencing the symptoms soon after the reduction of fetal haemoglobin(HbF) is being replaced by adult haemoglobin(HbA). Since the SS have a reduced life span, Hydroxyurea has been used since it improves fetal haemoglobin levels in the blood and so reducing the destruction of the red blood cells.

In children and young adults the care should be continued but often times the patients are lost to follow up only for some females to resurface when they are pregnant or in severe crises.

During pregnancy, there’s a need to ensure their haemoglobin levels are monitored and transfused as necessary. Painful crises are common during pregnancy since the growing fetus has reduced fluid intake, especially in the first months. Monitoring of blood pressure(BP) is key since these patients tend to develop a rise in their BP. Timing of delivery is key since intrauterine fetal death has been reported in some cases. Vaginal delivery is best for these patients unless there is fetal compromise.

Post-delivery, they should be given anticoagulants(drugs to prevent blood clotting) since they are prone to develop deep venous thrombosis(clotting in blood vessels).

AVAILABILITY OF DRUGS FOR TREATMENT OF SCD

The hospital has been quite resilient in the availability of drugs which are used to treat SCD. The only downside was the sustainability of continuous availability at all times. The drugs which are availed as per the stock list include Hydroxyurea 500mg capsules, folic acid tablets and Pen V tablets. There has been quite a challenge to avail Paludrine and Pediatric hydroxyurea due to the availability of the drug in 500mg capsules only. The lead time too in the procurement process and delivery of drugs sometimes led to stock-outs which has had an impact on the treatment and refill of the monthly prophylactic drugs. There is hope through the start of reconstitution of hydroxyurea suspension for paediatrics.

IMMUNIZATIONS:

SCD patients are well protected against a quota of diseases which have available vaccines and can help in providing protection against certain diseases. It is important that children under 5 years of age are immunized according to the KDVI government schedule and these are available at most primary health facilities. It is noted though that there are some vaccines that are recommended to be given as a yearly booster portion for SCD patients e.g Pneumococcal vaccines and these are not availed for free in public health facilities.

BLOOD AND BLOOD PRODUCTS:

The need for transfusion in SCD patients becomes quite apparent in the need for emergency cases of low haemoglobin levels, especially in crises. The availability of Blood and blood products has hit quite a dilemma. This is due to the fact that there is great apathy for the societal need and willingness for blood donation. The lack of funds too to drive the regional blood transfusion centres to enable regular blood drives have been lacking. This also is compounded with the blood donors being from boarding schools and colleges who have a specific school time hence holiday time becoming a crisis. This makes the demand for blood to be quite high as compared to the supply hence making it quite a challenge when faced with the need for transfusion during the SCD crisis hence the only solution being close friends and relatives.

EXPERIENCES FROM PLWSCD

“Life is a coin with two sides, being an SC warrior has several challenges like frequent hospitalization due to painful crises, and stigmatization from friends and sometimes family. However, this disease is what led me to study Nursing. It has been my desire to bring changes in Sickle cell understanding and care both from the community and the health set-up. Nevertheless, the frequent hospitalization has led to unemployment and untimely dismissal from work thus causing an inability to be able to buy the expensive drugs, to get proper nutrition and care” David.

“My name is Michelle. 29yrs of age and will turn 30yrs next year, I was born in the year 1993 January 5th and at the age of 3yrs, I was diagnosed with Sickle Cell Disease in KNH. Life since then has not been easy at all, in my high school years I developed a mild stroke that affected the right side of my body and I have not recovered up to now. Growing up I faced a lot of challenges since I was raised by a single parent, we didn’t have money to buy my medicine, and I was stigmatized even in the school I went to. It was not easy but by God’s grace, I pulled through. I had a passion to study film and I ended up studying Film and TV Production certificate course. With this, I hope to shoot movies and short films to educate people on SCD.”

“The burden of Sickle cell management continues to weigh down those living with sickle cell. Despite the efforts, we have continuously made to make life better for those living with sickle cell we need more to be done in regards to management of sickle cell.

Therefore the international conference would be very essential for us in that it would bring different people together to support and help explore more and better alternatives for sickle cell disease” Sharon